AutismKB 2.0

Annotation Detail for GABRE


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Basic Information Top
Gene Symbol:GABRE ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, epsilon
Band: Xq28
Quick LinksEntrez ID:2564; OMIM: 300093; Uniprot ID:GBRE_HUMAN; ENSEMBL ID: ENSG00000102287; HGNC ID: 4085
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
134N-linked (GlcNAc...) (Potential).
252N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
134N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
252N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
134N-linkedHMM predict
208Phosphoserine(IKK)HMM predict
225SulfotyrosineHMM predict
252N-linkedHMM predict
292O-linkedHMM predict
316O-linkedHMM predict
319O-linkedHMM predict
367N-linkedHMM predict
390Phosphothreonine(PKC)HMM predict
394Phosphoserine(PKG)HMM predict
415Phosphoserine(CK2)HMM predict
422Phosphoserine(IKK)HMM predict
424O-linkedHMM predict
430Phosphoserine(IKK)HMM predict
430Phosphoserine(ATM)HMM predict
430Phosphoserine(MAPK)HMM predict
430O-linkedHMM predict
430Phosphoserine(CDC2)HMM predict
433Phosphoserine(IKK)HMM predict
433Phosphoserine(CDC2)HMM predict
439Phosphoserine(IKK)HMM predict
447S-palmitoylHMM predict
482N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018